Genetic testing for inherited eye misalignment

Abeshi A., Fanelli F., Beccari T., DÜNDAR M. , Colombo L., Bertelli M.

EUROBIOTECH JOURNAL, vol.1, pp.60-62, 2017 (Journal Indexed in ESCI) identifier

  • Publication Type: Article / Article
  • Volume: 1
  • Publication Date: 2017
  • Doi Number: 10.24190/issn2564-615x/2017/s1.19
  • Title of Journal : EUROBIOTECH JOURNAL
  • Page Numbers: pp.60-62


We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for Inherited eye misalignment (IEM). Forms of IEM associated with variations in the SALL4, CHN1, TUBB3 and KIF21A genes have autosomal dominant inheritance, whereas those associated with variations in the ROBO3, PHOX2A, HOXA1 and HOXB1 genes have autosomal recessive inheritance. The prevalence of MS is currently unknown. Diagnosis is based on clinical findings, family history, visual acuity testing and fundus examination. The genetic test is useful for confirming diagnosis, and for differential diagnosis, couple risk assessment and access to clinical trials.